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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ethylmalonic encephalopathy
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Accession:EFO:MONDO:0011229 term browser browse the term
Definition:Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Synonyms:related_synonym: EE;   EPEMA syndrome;   eme;   encephalopathy, petechiae, and ethylmalonic aciduria;   syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
 alt_id: MONDO:0011229
 xref: DOID:0060640;   GARD:2198;   MEDGEN:355966;   MESH:C535737;   MIM:602473;   ORDO:51188;   SCTID:723307008;   UMLS:C1865349;   icd11.foundation:1966714550
 see_also: https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy" xsd:anyURI {source="GARD:0002198


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            ethylmalonic encephalopathy 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Mendelian encephalopathy 0
              ethylmalonic encephalopathy 0
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